KEGG   Homo sapiens (human): 1297Help
Entry
1297              CDS       T01001                                 

Gene name
COL9A1, DJ149L1.1.2, EDM6, MED, STL4
Definition
(RefSeq) collagen type IX alpha 1 chain
  KO
K08131  collagen, type IX, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1297 (COL9A1)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1297 (COL9A1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1297 (COL9A1)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1297 (COL9A1)
 09160 Human Diseases
  09172 Infectious diseases: Viral
   05165 Human papillomavirus infection
    1297 (COL9A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    1297 (COL9A1)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Collagen family
   1297 (COL9A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Collagen Laminin_G_2 Laminin_G_3 Toxin_R_bind_N
Motif
Other DBs
NCBI-GeneID: 1297
NCBI-ProteinID: NP_001842
OMIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280
Vega: OTTHUMG00000014988
Pharos: P20849(Tbio)
UniProt: P20849
Structure
PDB: 

Position
6q13
AA seq 921 aa AA seqDB search
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLI
SQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMT
GSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQW
HKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLI
HCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIP
GPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDK
GEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLP
GVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLP
GMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSR
GLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAAS
LKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
CEPASCTMQAGQRAFNKGPDP
NT seq 2766 nt NT seq  +upstreamnt  +downstreamnt
atgaagacctgctggaaaattccagttttcttctttgtgtgcagtttcctggaaccctgg
gcatctgcagctgtcaagcgtcgccccagattccctgtcaattccaattctaatggtgga
aatgaactctgtccaaagatcaggattggccaagatgacttaccagggtttgatctgatc
tctcagttccaggtagataaagcagcatctagaagagctatccagagagtagtgggatca
gctacattgcaggtggcttacaagttgggaaataatgtagacttcaggattccaactagg
aatttatatcccagtggactgcctgaagaatactccttcttgacgacgtttcgaatgact
ggaagcactctcaaaaagaactggaacatttggcagattcaggattcctctgggaaggag
caagttggcataaagattaatggccaaacacaatctgttgtattttcatacaagggactg
gatggaagtctccaaacagcagccttttcgaatttgtcctccttgtttgattcccagtgg
cataagatcatgattggcgtggagaggagtagtgctactctttttgttgactgcaacagg
attgaatctttacctataaagccaagaggcccaattgacattgatggctttgctgtgctg
ggaaaacttgcagataatcctcaagtttctgttccatttgaacttcaatggatgctgatc
cattgtgaccccctgcggcccaggagagaaacttgccatgagctgccagccagaataacg
cccagccagaccaccgacgagagaggtcccccgggtgagcagggtcctcccgggcctccg
ggcccccctggagttccaggcatcgatggcatcgacggtgaccgaggtcctaagggcccc
ccgggccccccgggtcctgcaggtgaaccgggaaagccaggagctccaggcaagcctggc
acacctggcgctgatggattaacaggacctgatggatcccctggctccattgggtcaaag
ggacaaaaaggagaacctggtgtgcctggatcgcgtggatttccaggccgtggtattcct
ggaccccctggtcctcctgggacagcaggactccctggagagcttggccgtgtaggacct
gttggtgaccctgggagaagaggaccacctggcccccctggccccccaggacccagagga
acaattggctttcatgatggagatccattgtgtcccaatgcctgtccaccaggtcgctca
ggatatccaggcctaccaggcatgaggggtcataaaggggctaaaggagaaattggtgaa
ccaggaagacaaggacacaagggtgaagaaggtgaccagggagaactcggagaagttgga
gctcaaggacctccaggagcccagggtttgcgaggcatcaccggcatagttggggacaaa
ggggaaaaaggtgctcggggcttagatggtgaacctgggcctcagggtcttcctggtgca
cctggtgatcaaggacagcgaggacctccaggagaagcaggtcccaaaggagatagaggg
gctgaaggtgctagaggaattcctggtctccctgggcccaaaggagacacgggtttgcca
ggtgtggatggccgtgatgggatccctggaatgcctggaacaaagggtgaaccaggaaaa
cctgggcctcctggtgatgcaggattgcaggggttaccaggtgtacctggaattcctggt
gcaaagggtgttgctggtgaaaagggtagcacaggtgctccagggaagcctggtcagatg
ggaaattcaggcaaaccgggccaacaggggcctccaggagaggtgggaccccgaggaccc
caggggcttcctggcagtagaggagaattaggaccagtgggatccccaggcctaccaggt
aaactgggttctctgggtagccctggcctccctggcttgcctgggccccctggacttcct
ggaatgaaaggtgacaggggtgtagtcggtgaaccgggtccaaagggtgaacagggtgcc
tctggtgaagaaggtgaagcaggagaaaggggggaacttggagatataggattacctggc
ccaaagggatctgcaggtaatcctggggaacctggcttgagagggcctgagggaagtcgg
gggcttcctggagtggaaggaccaagaggaccacctggaccccggggtgtgcagggagaa
cagggtgccaccggcctgcctggtgtccagggccctccgggtagagcaccgacagatcag
cacattaagcaggtttgcatgagagtcatacaagaacattttgctgagatggctgccagt
cttaagcgtccagactcaggtgccactgggcttcctggaaggcctggccctcctggtccc
cccggccctcctggagagaatggtttcccaggccagatgggaattcgtggccttccgggc
attaaggggccccctggtgctcttggtttgaggggacctaaaggtgacttgggagaaaag
ggggagcgtggccctccaggaagaggtcccaacggtttgcctggagctataggtctccca
ggtgacccaggccctgccagctatggcagaaatggccgagacggtgagcgaggcccccca
ggggtggcaggaattcctggagtgcctggacccccgggacctcctgggcttcccggtttc
tgtgagccagcctcctgcaccatgcaggctggtcagcgagcatttaacaaagggcctgac
ccttga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (30)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (36)   
   RefSeq(nuc) (6)   
   GenBank (15)   
   EMBL (15)   
Protein domain (4)   
   Pfam (4)   
All databases (92)   

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